Dyskeratosis Congenita Diagnosis

Dyskeratosis congenita can be hard for doctors to diagnose because different people have different symptoms that show up at different times in their lives. Still, finding the condition early is very important. Treatments may have a better chance of success if they start early and if experienced doctors are carefully watching children with DC.

Most of the time, our team will begin diagnosing your child by:

Taking a detailed health history

Examining your child for signs of DCM

Next, we may ask your child to have one or more tests. We may:

Do blood tests to check the level of each kind of blood cell. We look at the blood cells under a microscope and use what we see to help find out the cause of the problem.

Take a sample, usually of blood or spit (saliva), and test it for changes (mutations) in the genes that are linked to DC.

Do blood tests to look for unusual parts of the chromosomes, which are the structures that carry genes. This relatively new test checks whether the ends of your child's chromosomes, called telomeres (TEE-lo-meers), are unusually short.

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Seattle Children’s provides healthcare without regard to race, color, religion (creed), sex, gender identity or expression, sexual orientation, national origin (ancestry) or disability. Financial assistance for medically necessary services is based on family income and hospital resources and is provided to children under age 21 whose primary residence is in Washington, Alaska, Montana or Idaho.